• Giselle

Detoxing Issues and Charcoal Lemonade

A few years ago I discovered through genetic testing (done with 23andMe) that I had a gene mutation called MTHFR. I had done a little research prior to testing so had a feeling I had the mutation based on issues I was having. Number one being suffering from miscarriages. When I was given my results, I dove head first into learning all I could about my specific gene mutation (there's a few different forms of the mutation). When I started discussing that I had this mutation, I was asked many, many questions. Since 30-50% of the population actually has this same mutation, I thought I'd answer some of those questions today.

What does MTHFR stand for and what is it?

MTHFR stands for methylenetetrahydrofolate reductase. This is the enzyme that the gene provides directions to produce. This enzyme is responsible for many important processes such as amino acid balance, DNA synthesis, and repair, regulating gene expression, converting inactive folic acid or folate into the active form your body uses. The genetic code of the MTHFR enzyme must be perfect in order for it to function properly. A dysfunctional MTHFR enzyme may lead to a slew of health problems.

Here's some more detail from the genetics home reference :

"The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the vitamin folate (also called vitamin B9). Specifically, this enzyme converts a molecule called 5,10-methylenetetrahydrofolate to a molecule called 5-methyltetrahydrofolate. This reaction is required for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds."

What are the types of mutations?

Remember back in elementary school when we learned about genes and how our parents can pass on one gene or two genes to us? It took me a second to remember but it all came back! Basically as far as mutated genes goes, if both parents pass on a healthy gene, the child won't have the mutated gene. If one parent passes on healthy and one parent passes on mutated, you'll have a heterozygous mutation. If both pass on a mutated gene, you'll have a homozygous mutation. Other variations can occur but for the sake of not getting too sciencey lets stick with that. Now with MTHFR there are several different types of gene mutations but the most common ones are C677T and A1298C. These numbers just refer to where the mutation in the gene is occurring. When I had my testing done I discovered that I was homozygous for the A1298C mutation.

What does it mean if you have a mutation?

Many people live with the gene mutation and have zero symptoms or effects from it. However some people are affected by it and can be affected by it at different points of their lives based on environmental factors. Some "MTHFR Symptoms" include,

  • High homocysteine levels.

  • Folate deficiency. Common symptoms include extreme fatigue, light-headedness, and forgetfulness.

  • Had one or more miscarriage.

  • Longstanding gastrointestinal issues.

  • An autoimmune disease.

  • Long history of anxiety or depression.

  • Inability to detox properly.

For me I also discovered pretty quickly after testing that I had a severe Vitamin B deficiency. Partially due to my diet at the time but also probably due to my inability to convert vitamins properly.

What to do if you have the mutation?

When I discovered I had this mutation, I was suffering from multiple miscarriages. Doctors are still on the fence as to whether or not MTHFR is to blame for miscarriages but there is some research and many that believe it is connected.

Here's some more detail from VeryWellFamily.com

"Those who support the theory have suggested that homocysteinemia may cause the formation of tiny blood clots which block the flow of nutrition to the placenta, essentially starving the fetus and triggering a spontaneous abortion. It's a highly contentious theory and one for which there really isn't any hard evidence.

With that being said, many women with recurrent miscarriage will test positive for the MTHFR mutation. As such, some doctors have endorsed the use of anti-clotting drugs such as heparin and low-dose aspirin to reduce the risk of blood clots. Others recommend high doses of folic acid and other B vitamins, believing that may provide homocysteine a target and route by which to be eliminated from the body.

While there is no proof that any of these measures will reduce the risk of miscarriage, there is also little evidence to suggest that will do any harm."

Luckily I had a doctor who was willing to side with me and that it could be to blame for my losses. So at 4 weeks I was put on anti-clotting injections and continued that throughout the duration of my pregnancy. This is a huge reason why I believe I was able to carry to term with zero issues.

Since I now know I have this mutation, and it's also related to other health issues, there are a few things I currently do.

1. Take the methylated form of B vitamins. I always check to see that all my vitamins containing folate or any B vitamins are methylated.

2. Eat lots of rich leafy greens which contain the methylated form of folate and are just good for you in general.

3. Focus on a healthy gut. I take probiotics and eat lots of fermented foods that are awesome at keeping a good healthy environment in the gut.

4. Avoid environmental toxins found in cleaning products, beauty products, plastics etc.

5. Help my body detox whenever possible. Since MTHFR is related to detoxing issues (it's actually referred to in some cases as the detox gene) I offer my body assistance when possible. I utilize the sauna when I can, even hitting up an infrared sauna from time to time. I take vitamins such as milk thistle, dandelion root, B12 and B complex, choline, glutathione and trace minerals (mostly after consuming alcohol). I also like to have activated charcoal on hand for when I need an extra detox push. You know, after a night with a little too much vino maybe ;-) This has been my favorite way to consume activated charcoal lately. I first discovered it at a juicery and thought, "Hey I can make that!" So I did! AND it's delicious!

Activated Charcoal Lemonade


5 lemons, juiced

5 cups filtered water

2 tbsp. activated charcoal powder

1-2 tbsp. honey depending on desired sweetness


Blend all ingredients in a blender on high for about 30 seconds. Pour into a carafe or jar and store in the fridge for a yummy detoxing beverage!

Even if you don't feel the need for detoxing assistance, give it a try!





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